Incidental Mutation 'R6141:Grik1'
| ID |
488597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik1
|
| Ensembl Gene |
ENSMUSG00000022935 |
| Gene Name |
glutamate receptor, ionotropic, kainate 1 |
| Synonyms |
Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5 |
| MMRRC Submission |
044288-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87693760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 862
(R862S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023652
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
14 |
357 |
4.7e-69 |
PFAM |
|
Pfam:Peripla_BP_6
|
48 |
347 |
5.1e-11 |
PFAM |
|
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
770 |
815 |
2e-16 |
BLAST |
|
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072256
AA Change: R862S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: R862S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
14 |
357 |
2.6e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
49 |
347 |
3.4e-10 |
PFAM |
|
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
770 |
817 |
1e-17 |
BLAST |
|
low complexity region
|
858 |
879 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: R877S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
| Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
| Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,526,932 (GRCm39) |
I279N |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
| Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
| Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
| Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
| Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
| Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Nckap1 |
C |
A |
2: 80,360,551 (GRCm39) |
D533Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,064,185 (GRCm39) |
E375G |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
| Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
| Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
| Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
| Ric1 |
T |
C |
19: 29,572,842 (GRCm39) |
S761P |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,526 (GRCm39) |
I373V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
| Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
probably benign |
Het |
|
| Other mutations in Grik1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Grik1
|
APN |
16 |
87,754,488 (GRCm39) |
splice site |
probably null |
|
|
IGL01347:Grik1
|
APN |
16 |
87,754,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01612:Grik1
|
APN |
16 |
87,743,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02010:Grik1
|
APN |
16 |
87,848,396 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02059:Grik1
|
APN |
16 |
87,852,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02068:Grik1
|
APN |
16 |
87,737,539 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02200:Grik1
|
APN |
16 |
87,737,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Grik1
|
APN |
16 |
87,732,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Grik1
|
APN |
16 |
87,743,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Grik1
|
APN |
16 |
87,744,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Grik1
|
APN |
16 |
87,806,649 (GRCm39) |
splice site |
probably null |
|
|
IGL02890:Grik1
|
APN |
16 |
87,693,690 (GRCm39) |
intron |
probably benign |
|
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0387:Grik1
|
UTSW |
16 |
87,831,238 (GRCm39) |
splice site |
probably benign |
|
|
R0613:Grik1
|
UTSW |
16 |
87,848,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1087:Grik1
|
UTSW |
16 |
87,803,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Grik1
|
UTSW |
16 |
87,746,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1905:Grik1
|
UTSW |
16 |
87,693,754 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Grik1
|
UTSW |
16 |
87,848,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2157:Grik1
|
UTSW |
16 |
87,853,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Grik1
|
UTSW |
16 |
87,803,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Grik1
|
UTSW |
16 |
87,803,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4194:Grik1
|
UTSW |
16 |
87,743,616 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4343:Grik1
|
UTSW |
16 |
87,693,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4349:Grik1
|
UTSW |
16 |
87,754,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Grik1
|
UTSW |
16 |
87,848,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4423:Grik1
|
UTSW |
16 |
87,720,088 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4660:Grik1
|
UTSW |
16 |
87,720,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Grik1
|
UTSW |
16 |
87,754,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5052:Grik1
|
UTSW |
16 |
87,746,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5126:Grik1
|
UTSW |
16 |
87,744,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
|
R5335:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
|
R5337:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
|
R5479:Grik1
|
UTSW |
16 |
87,732,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Grik1
|
UTSW |
16 |
87,852,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6335:Grik1
|
UTSW |
16 |
87,744,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Grik1
|
UTSW |
16 |
87,831,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Grik1
|
UTSW |
16 |
87,848,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Grik1
|
UTSW |
16 |
87,709,708 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7876:Grik1
|
UTSW |
16 |
87,720,121 (GRCm39) |
missense |
|
|
|
R8021:Grik1
|
UTSW |
16 |
87,711,110 (GRCm39) |
missense |
|
|
|
R8027:Grik1
|
UTSW |
16 |
87,732,893 (GRCm39) |
missense |
|
|
|
R8096:Grik1
|
UTSW |
16 |
87,803,355 (GRCm39) |
missense |
|
|
|
R8266:Grik1
|
UTSW |
16 |
87,744,867 (GRCm39) |
missense |
probably benign |
|
|
R8515:Grik1
|
UTSW |
16 |
87,720,170 (GRCm39) |
nonsense |
probably null |
|
|
R8922:Grik1
|
UTSW |
16 |
87,693,167 (GRCm39) |
missense |
unknown |
|
|
R9097:Grik1
|
UTSW |
16 |
87,732,796 (GRCm39) |
missense |
|
|
|
R9125:Grik1
|
UTSW |
16 |
87,852,956 (GRCm39) |
missense |
|
|
|
R9273:Grik1
|
UTSW |
16 |
87,848,379 (GRCm39) |
missense |
|
|
|
R9286:Grik1
|
UTSW |
16 |
87,848,315 (GRCm39) |
missense |
|
|
|
R9491:Grik1
|
UTSW |
16 |
87,746,995 (GRCm39) |
missense |
|
|
|
RF016:Grik1
|
UTSW |
16 |
87,831,074 (GRCm39) |
missense |
|
|
|
RF022:Grik1
|
UTSW |
16 |
87,693,225 (GRCm39) |
missense |
|
|
|
X0018:Grik1
|
UTSW |
16 |
87,743,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grik1
|
UTSW |
16 |
87,743,572 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTTACCTTTGCTGAGACAG -3'
(R):5'- GCAGATACACATGGCATATTGC -3'
Sequencing Primer
(F):5'- CATTTCCCCCACTGAGAT -3'
(R):5'- TGTTGCTGCCAGAATCTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation